G51C (p.Gly51Cys) variant of AQP2 (Aquaporin-2)
G51C (p.Gly51Cys) in AQP2 (Aquaporin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G51C (p.Gly51Cys) variant details
- p.Gly51Cys
- NCI-TCGA Cosmic COSV5223
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.55
- CADD 24.10
- PolyPhen-2 0.62
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available